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List of works by Manuel Posada

A Nationwide Registry-Based Study on Mortality Due to Rare Congenital Anomalies

article

A call for global action for rare diseases in Africa

scientific article published on 01 January 2020

A pilot study on the feasibility of European harmonized human biomonitoring: Strategies towards a common approach, challenges and opportunities.

scientific article

Association of immunological cell profiles with specific clinical phenotypes of scleroderma disease.

scientific article published on 10 April 2014

Automated strong cation exchange extraction of fatty acid esters of 3-(N-phenylamino)-1,2-propanediol from oil samples for routine quantification by HPLC-APCI/MS/MS.

scientific article published in November 2001

Characterization of immune cell phenotypes in adults with autism spectrum disorders.

scientific article published on 13 June 2016

Child health and the environment: the INMA Spanish Study

scientific article published in September 2006

Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database.

scientific article published on 10 November 2017

Consensus on the criteria needed for creating a rare-disease patient registry. A Delphi study.

scientific article published on 19 August 2015

Cystic fibrosis mortality trends in Spain among infants and young children: 1981-2004.

scientific article published on 13 June 2008

Cytokine mRNA expression in lung tissue from toxic oil syndrome patients: a TH2 immunological mechanism

scientific article published on 01 March 1997

Delphi approach to select rare diseases for a European representative survey. The BURQOL-RD study

scientific article

Early Detection and Intervention of ASD: A European Overview

scientific article published in December 2017

Estimating the burden of disease for autism spectrum disorders in Spain in 2003.

scientific article published on 2 June 2007

Explaining Age at Autism Spectrum Diagnosis in Children with Migrant and Non-Migrant Background in Austria

scientific article published on 14 July 2020

Fish consumption patterns and hair mercury levels in children and their mothers in 17 EU countries.

scientific article published on 6 February 2015

Frequency of low-level and high-level mosaicism in sporadic retinoblastoma: genotype-phenotype relationships

scientific article published on 26 November 2019

Genetic approaches in the understanding of Toxic Oil Syndrome

scientific article published on 19 October 2005

Geographic Analysis of Motor Neuron Disease Mortality and Heavy Metals Released to Rivers in Spain

article

Identifying data sources for a national population-based registry: the experience of the Spanish Rare Diseases Registry

scientific article

Immunological basis of toxic oil syndrome (TOS)

scientific article published on 01 November 1994

Improving the informed consent process in international collaborative rare disease research: effective consent for effective research

scientific article

Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer.

scientific article published on 29 October 2017

Measurement Issues: Building a theoretical framework for autism spectrum disorders screening instruments in Europe

scientific article published on 22 December 2017

Mortality Due to Cystic Fibrosis over a 36-Year Period in Spain: Time Trends and Geographic Variations

article

National registries of rare diseases in Europe: an overview of the current situation and experiences

scientific article published on 9 September 2014

Operationalisation of the European Protocol for Autism Prevalence (EPAP) for Autism Spectrum Disorder Prevalence Measurement in Ireland.

scientific article published on 30 June 2016

RARE-Bestpractices: a platform for sharing best practices for the management of rare diseases.

scientific article published on 11 November 2014

RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research

scientific article

Severe alpha-1 antitrypsin deficiency in composite heterozygotes inheriting a new splicing mutation QOMadrid

scientific article

Social/economic costs and health-related quality of life in patients with histiocytosis in Europe.

scientific article published on 4 April 2016

SpainUDP: The Spanish Undiagnosed Rare Diseases Program

article

The ASDEU autism prevalence study in northern Spain

scientific article published on 09 May 2020

The TREAT-NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations

scientific article published on 17 March 2015

The TREAT-NMD Duchenne muscular dystrophy registries: conception, design, and utilization by industry and academia

scientific article published on 26 August 2013

The current situation and needs of rare disease registries in Europe.

scientific article published in January 2013

The need for worldwide policy and action plans for rare diseases

scientific article

The risk of re-identification versus the need to identify individuals in rare disease research

scientific article

Toxic oil syndrome and eosinophilia-myalgia syndrome: May 8-10, 1991, World Health Organization meeting report.

scientific article

Toxic oil syndrome: genetic restriction and immunomodulatory effects due to adulterated oils in a model of HLA transgenic mice.

scientific article published in November 2005

Trends in systemic lupus erythematosus mortality in Spain from 1981 to 2010.

scientific article published on 10 December 2013

Umbilical cord blood banking for unrelated transplantation: evaluation of cell separation and storage methods

scientific article published on 01 February 1999

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